Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report
Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report
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England: BioMed Central Ltd
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English
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England: BioMed Central Ltd
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Glycogen Storage Disease Type Ib (GSD-Ib) is a rare autosomal recessive metabolic disorder caused by mutations in SLC37A4, leading to a deficiency in glucose-6-phosphate translocase. This disorder is characterized by impaired glycogenolysis and gluconeogenesis, resulting in clinical and metabolic manifestations. We report a three-month-old Moroccan...
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Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report
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TN_cdi_doaj_primary_oai_doaj_org_article_8af44fcf503e4eac8a26fdb488926bb7
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8af44fcf503e4eac8a26fdb488926bb7
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ISSN
1755-8794
E-ISSN
1755-8794
DOI
10.1186/s12920-024-02057-5
